临床与医学基因组学杂志

Variants of PGIS and PPARγ in Idiopathic Pulmonary Arterial Hypertension

Abstract

Shivani Vadapalli, Chaitra KL, Satyanarayana ML, Surekha Rani H, Sastry BKS and Pratibha Nallari

Introduction: Idiopathic Pulmonary Arterial Hypertension (IPAH) is a subset of a heterogeneous group of diseases called Pulmonary Arterial Hypertension (PAH), characterized by elevated pulmonary arterial pressure (PAP) and is associated with severe arteriopathy, vascular lesions, and right heart failure. The role of prostacyclin synthase, an enzyme responsible for production of prostacyclin, and peroxisome proliferator-activated receptor gamma, involved in many cellular activities, is studied here.

Objectives: The objective of the study is to determine any association of prostacyclin synthase and Peroxisome proliferator-activated receptor gamma with Idiopathic Pulmonary Arterial Hypertension

Materials and methods: A total of 77 IPAH patients and 100 controls were genotyped using PCR SSCP and RFLP, and appropriate statistical tests were employed to determine the significance and to interpret the results.

Results and conclusion: This study has attempted to correlate promoter/gene polymorphisms of PGIS to its activity, and it can be concluded that the VNTR polymorphism and the polymorphism found in exon 6 may not have an effect on the levels of PGIS. The alanine variant of P12A polymorphism of PPARγ was found to be significantly associated with a reduced risk of IPAH.